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Clin Biochem. 2009 Dec;42(18):1767-79. doi: 10.1016/j.clinbiochem.2009.07.001. Epub 2009 Jul 14.

Prenatal diagnosis of hemoglobin disorders: present and future strategies.

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  • 1Department of Human and Clinical Genetics, Hemoglobinopathies Laboratory, Leiden University Medical Center, O and O Building, Einthovenweg 20 2333 ZC, Leiden, The Netherlands.


Prenatal diagnosis for the hemoglobinopathies based on molecular analysis of trophoblast or amniocyte DNA has accumulated around 30 years of experience, following the first applications in the 1970s. As the first monogenic diseases to be characterized at the molecular level the disorders of hemoglobin synthesis (thalassemias and hemoglobinopathies) have been used as a prototype for the development of many techniques of mutation detection, and consequently there are numerous PCR-based techniques described in the literature that can be used for prenatal diagnosis of the globin gene mutations. This review describes the most commonly used current methods, as well as the most promising newer methods. In addition, it outlines the newer application of preimplantation genetic diagnosis (PGD) and the state of progress in the developing field of non-invasive prenatal diagnosis.

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